ETV6 Chromosome 12
ETS variant transcription factor 6
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What This Gene Does
This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008]
Gene Info
Gene Group
ETS transcription factor family
Locus Type
gene with protein product
Location
12p13.2
Ensembl
ENSG00000139083
Associated Conditions (14)
EBV-positive nodal T- and NK-cell lymphoma
Inborn genetic diseases
ETV6-related disorder
Thrombocytopenia 5
Thrombocytopenia
Abnormal bleeding
Malignant lymphoma
large B-cell
diffuse
Acute lymphoid leukemia
Acute myeloid leukemia
Hematologic neoplasm
Neoplasm
Hereditary cancer-predisposing syndrome
Key Variants
RS1007158603
Conflicting classifications of pathogenicity
EBV-positive nodal T- and NK-cell lymphoma, Inborn genetic diseases, EBV-positive nodal T- and NK-cell lymphoma
Health Risk
RS1356564786
Conflicting classifications of pathogenicity
ETV6-related disorder, Inborn genetic diseases, ETV6-related disorder
Health Risk
RS1403421167
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140357643
Conflicting classifications of pathogenicity
Thrombocytopenia 5, ETV6-related disorder, Inborn genetic diseases
Health Risk
RS1437274494
Conflicting classifications of pathogenicity
Thrombocytopenia, Abnormal bleeding, ETV6-related disorder
Health Risk
RS144055004
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144209028
Conflicting classifications of pathogenicity
Thrombocytopenia 5, Inborn genetic diseases, Thrombocytopenia 5
Health Risk
RS146280653
Conflicting classifications of pathogenicity
ETV6-related disorder, Inborn genetic diseases, ETV6-related disorder
Health Risk
RS149416707
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150858928
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1863862591
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200351280
Conflicting classifications of pathogenicity
Thrombocytopenia 5, ETV6-related disorder, Inborn genetic diseases
Health Risk
All Variants (68)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS786205155 | Health Risk | Likely pathogenic | Thrombocytopenia, Acute lymphoid leukemia, Inborn genetic diseases |
| RS1210398083 | Health Risk | Pathogenic | Inborn genetic diseases, Thrombocytopenia 5, Inborn genetic diseases |
| RS121434637 | Health Risk | Pathogenic | Acute myeloid leukemia, Acute myeloid leukemia |
| RS141938078 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2136595276 | Health Risk | Pathogenic | — |
| RS2136602093 | Health Risk | Pathogenic | — |
| RS2136602130 | Health Risk | Pathogenic | — |
| RS2497924887 | Health Risk | Pathogenic | — |
| RS2497982663 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2497983099 | Health Risk | Pathogenic | — |
| RS587776710 | Health Risk | Pathogenic | Acute myeloid leukemia, Acute myeloid leukemia |
| RS724159945 | Health Risk | Pathogenic | Hematologic neoplasm, Thrombocytopenia, Thrombocytopenia 5 |
| RS962863191 | Health Risk | Pathogenic | ETV6-related disorder, Thrombocytopenia 5, ETV6-related disorder |
| RS1555144911 | Health Risk | Pathogenic/Likely pathogenic | Thrombocytopenia 5, Thrombocytopenia 5 |
| RS1591749480 | Health Risk | Pathogenic/Likely pathogenic | Thrombocytopenia, Thrombocytopenia 5, Thrombocytopenia |
| RS2136602321 | Health Risk | Pathogenic/Likely pathogenic | Thrombocytopenia 5, Inborn genetic diseases, Thrombocytopenia 5 |
| RS724159946 | Health Risk | Pathogenic/Likely pathogenic | Hematologic neoplasm, Thrombocytopenia, Thrombocytopenia 5 |
| RS724159947 | Health Risk | Pathogenic/Likely pathogenic | Hematologic neoplasm, Thrombocytopenia, Thrombocytopenia 5 |